@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_head { this: np:hasAssertion dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_assertion; np:hasProvenance dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_provenance; np:hasPublicationInfo dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_publicationInfo; a np:Nanopublication . dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_assertion a np:Assertion . dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_provenance a np:Provenance . dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_publicationInfo a np:PublicationInfo . } dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_assertion { miriam-gene:57038 a ncit:C16612 . lld:C0014550 a ncit:C7057 . dgn-gda:DGN831307c1b7a12d8e8974fabc3d6f19e8 sio:SIO_000628 miriam-gene:57038, lld:C0014550; a sio:SIO_001121 . } dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_provenance { dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_assertion dcterms:description "[The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:22283595; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP927396.RAUgpXKDdM22vmleoSCK1P-Gwo03RZv08LkLequOdgRm0130_publicationInfo { this: dcterms:created "2015-08-25T14:47:06+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }